A conclusion of DiGeorge syndrome is made mainly on the findings of a lab test which detects the “deletion in chromosome 22”. Making a diagnosis of DiGeorge syndrome in an infant or child includes taking a thorough medical, prenatal, and family history, including symptoms, and completing a physical examination. INTRODUCTION. Usually, the diagnosis of DiGeorge syndrome is made in early childhood. DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties. Some signs may be apparent at birth, such as cleft palate or a congenital heart defect, whereas others may … Diagnosis DGS is often diagnosed at birth or in infancy based on clinical observation of multiple symptoms with various organs. The physician will order this test as well as a grouping of other medical tests. The symptoms of DiGeorge syndrome can vary both in severity and types. DiGeorge syndrome can become evident at birth, in infancy or during early childhood. 22q deletion syndrome (22qDS), described as DiGeorge syndrome or velocardiofacial syndrome, is the set of characteristic morphological and neurological features that result from the deletion of 1 copy of 22q11.2. The classical presentation is a triad of cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia). DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system.

Conditions associated with the development of digeorge syndrome include diabetic embryopathy, fetal alcohol syndrome, and zellweger syndrome. Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. The severity of the condition varies. DiGeorge Syndrome (DGS) is a primary immunodeficiency disease (PIDD) associated with susceptibility to infections due to decreased T cell production and function due to an absent or poorly developed thymus.

FISH testing is performed on the infant's or child's blood and other tests are performed to evaluate overall health and the functioning of the immune system and the heart. This article reports on the late diagnosis of a patient with panic disorder and comorbid major depression at the age of 51. Most cases are caused by a heterozygous chromosomal deletion at 22q11.2. Digeorge syndrome is considered by some researchers as a developmental field defect consisting of several casually distinct disorders, rather than a distinct syndromic entity.